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Congenital glaucoma
4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Recurrent infections associated with rare immunoglobulin isotypes deficiency
1 OMIM reference -
2 associated genes
No signs/symptoms info
Congenital glaucoma
Recurrent infections associated with rare immunoglobulin isotypes deficiency

CYP1B1
(UniProt - OMIM)
 IGHG2
(UniProt - OMIM)
LTBP2
(UniProt - OMIM)
 IGKC
(UniProt - OMIM)
MYOC
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MYOC
(0.63)
IGKC


Citations in the biomedical literature:


Congenital glaucoma
CYP1B1 LTBP2 MYOC
Recurrent infections associated with rare immunoglobulin isotypes deficiency
IGHG2 IGKC



Congenital glaucoma
Recurrent infections associated with rare immunoglobulin isotypes deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- IgG subclass deficiency with IgA subclass deficiency
- Isolated IgG subclass deficiency
- Kappa-chain deficiency
- Selective IgG subclass deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: unknown
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.